A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126183



Internal ID18927046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:20633407..20634107hg38UCSC Ensembl
Outerchr1:20959900..20960600hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984412
SamplesKWS1
Known GenesMIR6084, PINK1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126183
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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